一种用于检测CHIC2缺失、FIP1L1/PDGFRA融合及PDGFRA易位的新型三色荧光原位杂交（FISH）方法的验证
Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.
作者信息
Fink Stephanie R, Belongie Kimberly J, Paternoster Sarah F, Smoley Stephanie A, Pardanani Animesh D, Tefferi Ayalew, Van Dyke Daniel L, Ketterling Rhett P
机构信息
Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA.
出版信息
Leuk Res. 2009 Jun;33(6):843-6. doi: 10.1016/j.leukres.2008.11.016. Epub 2008 Dec 31.
The PDGRFA locus has become a gene of interest based on mutational activation in various myeloid neoplasms and the availability of targeted therapies (i.e., imatinib mesylate) to its overexpression. We studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia. A total of 46 specimens were studied, including 15 from patients with a CHIC2 abnormality and six patients with an abnormality involving PDGFRA. Our results revealed this new FISH assay accurately detects these abnormalities and will be a useful clinical test for patients with myeloid neoplasms and eosinophilia.
基于在各种髓系肿瘤中的突变激活以及针对其过表达的靶向治疗（即甲磺酸伊马替尼）的可用性，血小板衍生生长因子受体A（PDGRFA）基因座已成为一个备受关注的基因。我们研究了一种新的荧光原位杂交（FISH）方法，用于检测嗜酸性粒细胞增多相关髓系肿瘤患者中的CHIC2缺失、FIP1L1/PDGFRA融合及PDGFRA易位。共研究了46份标本，其中15份来自CHIC2异常患者，6份来自涉及PDGFRA异常的患者。我们的结果显示，这种新的FISH检测方法能准确检测出这些异常，对于髓系肿瘤和嗜酸性粒细胞增多患者将是一种有用的临床检测方法。
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